Homo sapiens Gene: ARSA
Summary
InnateDB Gene IDBG-14144.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ARSA
Gene Name arylsulfatase A
Synonyms MLD;
Species Homo sapiens
Ensembl Gene ENSG00000100299
Encoded Proteins
arylsulfatase A
arylsulfatase A
arylsulfatase A
arylsulfatase A
arylsulfatase A
arylsulfatase A
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary The protein encoded by this gene hydrolyzes cerebroside sulfate to cerebroside and sulfate. Defects in this gene lead to metachromatic leucodystrophy (MLD), a progressive demyelination disease which results in a variety of neurological symptoms and ultimately death. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Dec 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 22:50622754-50628173
Strand Reverse strand
Band q13.33
Transcripts
ENST00000356098 ENSP00000348406
ENST00000216124 ENSP00000216124
ENST00000395621 ENSP00000378983
ENST00000395619 ENSP00000378981
ENST00000453344 ENSP00000412542
ENST00000551731
ENST00000610191
ENST00000608497 ENSP00000477013
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003824 catalytic activity
GO:0004065 arylsulfatase activity
GO:0004098 cerebroside-sulfatase activity
GO:0005509 calcium ion binding
GO:0008484 sulfuric ester hydrolase activity
Biological Process
GO:0006665 sphingolipid metabolic process
GO:0006687 glycosphingolipid metabolic process
GO:0006914 autophagy
GO:0007339 binding of sperm to zona pellucida
GO:0007417 central nervous system development
GO:0007584 response to nutrient
GO:0008152 metabolic process
GO:0009268 response to pH
GO:0043627 response to estrogen
GO:0043687 post-translational protein modification
GO:0044267 cellular protein metabolic process
GO:0044281 small molecule metabolic process
GO:0045471 response to ethanol
GO:0051597 response to methylmercury
Cellular Component
GO:0001669 acrosomal vesicle
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005764 lysosome
GO:0005768 endosome
GO:0005788 endoplasmic reticulum lumen
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0031232 extrinsic component of external side of plasma membrane
GO:0043202 lysosomal lumen
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Sphingolipid metabolism pathway
Metabolism of lipids and lipoproteins pathway
Post-translational protein modification pathway
PTM: gamma carboxylation, hypusine formation and arylsulfatase activation pathway
Metabolism of proteins pathway
The activation of arylsulfatases pathway
Glycosphingolipid metabolism pathway
Metabolism pathway
KEGG
Sphingolipid metabolism pathway
Lysosome pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P15289
TrEMBL
UniProt Splice Variant
Entrez Gene 410
UniGene Hs.88251
RefSeq NM_001085425 NM_001085426 NM_000487 NM_001085428 NM_001085427
HUGO HGNC:713
OMIM 607574
CCDS CCDS14100 CCDS46736
HPRD 09617
IMGT
EMBL AB448736 AK098659 AK315011 AY271820 BC014210 CR456383 U62317 X52150 X52151
GenPept AAB03341 AAH14210 AAP03431 BAG37503 BAH11167 CAA36398 CAA36399 CAG30269
RNA Seq Atlas 410